Causes

Muscle contractions in the gut help digested materials move through the intestine. This is called peristalsis. Nerves in between the muscle layers trigger the contractions.

In Hirschsprung's disease, the nerves are missing from a part of the bowel. Areas without such nerves cannot push material through. This causes a blockage. Intestinal contents build up behind the blockage, causing the bowel and abdomen to become swollen.

Hirschsprung's disease causes about 25% of all newborn intestinal blockages. It occurs five times more often in males than in females. Hirschsprung's disease is sometimes associated with other inherited or congenital conditions, such as Down syndrome.

Symptoms

Symptoms that may be present in newborns and infants include:

• Difficulty with bowel movements
• Failure to pass meconium shortly after birth
• Failure to pass a first stool within 24 - 48 hours after birth
• Infrequent but explosive stools
• Jaundice
• Poor feeding
• Poor weight gain
• Vomiting
• Watery diarrhea (in the newborn)

Symptoms in older children:

• Constipation that gradually gets worse
• Fecal impaction
• Malnutrition
• Slow growth
• Swollen belly

Exams and Tests

Milder cases may not be diagnosed until a later age.

During a physical examination, the doctor may be able to feel loops of bowel in the swollen belly. A rectal examination may reveal a loss of muscle tone in the rectal muscles.

Tests used to help diagnose Hirschsprung's disease may include:

• Abdominal x-ray
• Anal manometry (a balloon is inflated in the rectum to measure pressure in the area)
• Barium enema
• Rectal biopsy

Treatment

Before surgery, a procedure called serial rectal irrigation helps relieve pressure in (decompress) the bowel.

The abnormal section of colon must be removed with surgery. Most commonly, the rectum and abnormal part of the colon are removed. The healthy part of the colon is then pulled down and attached to the anus.

Sometimes this can be done in one operation. However, it is often done in two parts. A colostomy is performed first, and another procedure is performed later in the child's first year of life.

Outlook (Prognosis)

Symptoms improve or go away in most children after surgery. A small number of children may have constipation or problems controlling stools (fecal incontinence). Children who get treated early or who have a shorter segment of bowel involved have a better outcome.

Possible Complications

• Inflammation and infection of the intestines (enterocolitis) may occur before surgery, and sometimes during the first 1-2 years afterwards. Symptoms are severe, including swelling of the abdomen, foul-smelling watery diarrhea, lethargy, and poor feeding.
• Perforation or rupture of the intestine
• Short bowel syndrome, a condition that can lead to malnourishment and dehydration

When to Contact a Medical Professional

Call your child's health care provider if:

• Your child develops symptoms of Hirschsprung's disease
• Your child has abdominal pain or other new symptoms after being treated for this condition

Alternative Names

Congenital megacolon

References

Kessmann J. Hirschsprung's Disease: Diagnosis and Management. Am Fam Phys. 2006;74:1319-1322.

Fiorino K, Liacouras CA. Congenital aganglionic megacolon (Hirschsprung disease). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 324.3.

Updated: 4/13/2012

Reviewed by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.